Simultaneous occurrence of neurofibromatosis type 1 and tuberous sclerosis in a young girl
| العنوان: | Simultaneous occurrence of neurofibromatosis type 1 and tuberous sclerosis in a young girl |
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| المؤلفون: | Patricia G. Wheeler, Ab Sadeghi-Nejad |
| المصدر: | American Journal of Medical Genetics Part A. :78-81 |
| بيانات النشر: | Wiley, 2005. |
| سنة النشر: | 2005 |
| مصطلحات موضوعية: | Family Health, Hypopigmentation, Male, medicine.medical_specialty, Neurofibromatosis 1, business.industry, media_common.quotation_subject, medicine.disease, Dermatology, Pedigree, Tuberous sclerosis, Endocrinology, Thigh, Tuberous Sclerosis, Child, Preschool, Internal medicine, Genetics, medicine, Humans, Female, Girl, Neurofibromatosis, business, Genetics (clinical), media_common |
| الوصف: | Neurofibromatosis type 1 and tuberous sclerosis are the two most common neurocutaneous disorders in humans. Both are transmitted as autosomal dominant conditions with a high rate of new mutations and similar clinical features. However, the two disorders have distinct and well-delineated genetic, biochemical, and physical findings. Simultaneous occurrence of these two conditions is rare. We report on a young girl who inherited both disorders, review similar cases reported in the world literature, and discuss possible implications of the presence of NF1 and TSC in the same individual. |
| تدمد: | 1552-4833 1552-4825 |
| الوصول الحر: | https://explore.openaire.eu/search/publication?articleId=doi_dedup___::adf1ab03eba0f64fe84948cab1f71cd1Test https://doi.org/10.1002/ajmg.a.30530Test |
| حقوق: | CLOSED |
| رقم الانضمام: | edsair.doi.dedup.....adf1ab03eba0f64fe84948cab1f71cd1 |
| قاعدة البيانات: | OpenAIRE |
| تدمد: | 15524833 15524825 |
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